Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

ABSTRACT: Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome.

SUBMITTER: Flanagan SE 

PROVIDER: S-EPMC4129488 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature